Bispo M A, Ramos P, Laranjeiro T, Cabral P, Palminha J M
Serviço de Pediatria, Hospital S. Francisco Xavier, Lisboa.
Acta Med Port. 1998 Jul;11(7):675-81.
The authors divide neonatal metabolic diseases into two major groups: intoxication and energy deficiency. The main signs which allow for the suspicion of the diagnosis are indicated for each group. The complementary examinations to be carried out by the Clinical Pathology Service of the Central Hospital and those which must be carried out by the metabolic diseases Reference Centre are reviewed. Based on the clinical framework and on the examination results, the authors establish five syndromatic groups to orientate diagnosis. The authors conclude by presenting differential diagnosis tables based on the original systematic classification by Jean-Marie Saudubray, with up-dated modifications from their own experience.
中毒和能量缺乏。针对每一类疾病，都指出了有助于怀疑诊断的主要体征。回顾了中心医院临床病理科应进行的补充检查以及代谢疾病参考中心必须进行的检查。基于临床框架和检查结果，作者建立了五个综合征组以指导诊断。作者通过展示基于让 - 玛丽·索杜布雷的原始系统分类，并结合他们自己经验的最新修改的鉴别诊断表来得出结论。
